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. Author manuscript; available in PMC: 2020 Jan 3.
Published in final edited form as: Hum Genet. 2015 May 5;134(7):775–787. doi: 10.1007/s00439-015-1550-9

Fig. 2.

Fig. 2

Dysmorphic features in the JMML CBL p.Y371C heterozy- gote proband (IV.2). At 18 months of age (a), the proband exhib- its dysmorphic features including down-slanting palpebral fis- sures which are also apparent at 5 years of age (b). In an adult (age 36 years) frontal (c) photograph, the proband continues to have down-slanting palpebral fissures. d Adult profile (side) photograph (Swerdlow et al. 2008). In addition, the patient’s recent complete blood counts (CBCs) (2010–2013) indicate a per- sistently elevated absolute monocyte count, though she is currently clinically asymptomatic off-therapy.